ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)

gnomAD frequency: 0.00003  dbSNP: rs1007457582
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473231 SCV000541328 uncertain significance Alstrom syndrome 2021-09-02 criteria provided, single submitter clinical testing
Counsyl RCV000473231 SCV000794864 uncertain significance Alstrom syndrome 2017-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379408 SCV002673093 uncertain significance Cardiovascular phenotype 2021-11-11 criteria provided, single submitter clinical testing The p.S2469G variant (also known as c.7405A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 7405. The serine at codon 2469 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV000473231 SCV002806732 uncertain significance Alstrom syndrome 2021-10-07 criteria provided, single submitter clinical testing
GeneDx RCV003231486 SCV003930210 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000473231 SCV002082870 uncertain significance Alstrom syndrome 2021-01-19 no assertion criteria provided clinical testing

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