ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)

gnomAD frequency: 0.00003  dbSNP: rs768930001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003225171 SCV003921655 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003294174 SCV003996423 uncertain significance Cardiovascular phenotype 2023-06-05 criteria provided, single submitter clinical testing The p.S763T variant (also known as c.2288G>C), located in coding exon 8 of the ALMS1 gene, results from a G to C substitution at nucleotide position 2288. The serine at codon 763 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277428 SCV001464377 likely benign Alstrom syndrome 2020-04-29 no assertion criteria provided clinical testing

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