ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)

gnomAD frequency: 0.00001  dbSNP: rs767078704
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295834 SCV001484784 uncertain significance Alstrom syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 386 of the ALMS1 protein (p.Ser386Asn). This variant is present in population databases (rs767078704, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 999795). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001295834 SCV002779836 uncertain significance Alstrom syndrome 2022-03-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155389 SCV003845044 uncertain significance not specified 2023-02-20 criteria provided, single submitter clinical testing
GeneDx RCV003227023 SCV003923721 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 RCV003382500 SCV004088637 uncertain significance Cardiovascular phenotype 2023-09-06 criteria provided, single submitter clinical testing The p.S386N variant (also known as c.1157G>A), located in coding exon 5 of the ALMS1 gene, results from a G to A substitution at nucleotide position 1157. The serine at codon 386 is replaced by asparagine, an amino acid with highly 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. RCV001295834 SCV002080403 uncertain significance Alstrom syndrome 2020-10-14 no assertion criteria provided clinical testing

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