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NM_001304366.2(SAMD7):c.992A>T (p.Asp331Val) AND MACULAR DYSTROPHY WITH CONE DYSFUNCTION

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003985688.1

Allele description [Variation Report for NM_001304366.2(SAMD7):c.992A>T (p.Asp331Val)]

NM_001304366.2(SAMD7):c.992A>T (p.Asp331Val)

Gene:
SAMD7:sterile alpha motif domain containing 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.2
Genomic location:
Preferred name:
NM_001304366.2(SAMD7):c.992A>T (p.Asp331Val)
HGVS:
  • NC_000003.12:g.169928529A>T
  • NM_001304366.2:c.992A>TMANE SELECT
  • NM_182610.4:c.992A>T
  • NP_001291295.1:p.Asp331Val
  • NP_872416.1:p.Asp331Val
  • NC_000003.11:g.169646317A>T
  • NR_130713.2:n.1471A>T
Protein change:
D331V; ASP331VAL
Links:
OMIM: 620493.0005
Molecular consequence:
  • NM_001304366.2:c.992A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182610.4:c.992A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_130713.2:n.1471A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
MACULAR DYSTROPHY WITH CONE DYSFUNCTION
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801663OMIM
no assertion criteria provided
Pathogenic
(Mar 19, 2024) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T.

Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24.

PubMed [citation]
PMID:
38272031
PMCID:
PMC10870129

Details of each submission

From OMIM, SCV004801663.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 39-year-old Pakistani woman (patient 6-1) who had macular dystrophy with cone dysfunction (MDCD; 620762), Bauwens et al. (2024) identified homozygosity for a c.992A-T transition (c.992A-T, NM_001304366.2) in exon 7 of the SAMD7 gene, resulting in an asp331-to-val (D331V) substitution at a highly conserved residue within the SAM domain. Familial segregation was not reported, but the variant was not present in the gnomAD database. Functional analysis in cotransfected HEK293FT cells revealed that CRX (602225) inhibition was significantly reduced with the D31V mutant compared to wildtype SAMD7.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 23, 2024